Property Summary

NCBI Gene PubMed Count 39
PubMed Score 115.91
PubTator Score 92.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis -1.600 1.0e-25
facioscapulohumeral dystrophy -1.800 2.4e-04

 GO Function (1)

Gene RIF (32)

PMID Text
27082237 Mutations in RAI1, OTOF, and SLC26A4 may have roles in nonsyndromic hearing loss in Altaian families in Siberia
24999532 The C2F and C2C domains of otoferlin preferentially bind phosphatidylinositol 4,5-bisphosphate (4,5)P2.
24814232 Our observation of the discordant audiologic phenotype within the same DFNB9 family is more likely due to the loss of OAE over time rather than a genotype-phenotype correlation.
24746455 audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation
24135434 We characterize a novel otoferlin mutation discovered in a sibling pair diagnosed with auditory neuropathy spectrum disorder and investigate auditory nerve function through their cochlear implants.
24053799 The six probable pathogenic variants of OTOF genes were novel: 2 nonsense mutations (p.W717X, p.S1368X) and 4 missense mutations (p.D450E, p.R1583H, p.V1778I, p. E1803A).
24001616 OTOF gene mutataion is found in a Chinese patient with auditory neuropathy spectrum disorder.
23859474 Data indicate that dysferlin, otoferlin, and myoferlin do not merely passively adsorb to membranes but actively sculpt lipid bilayers.
22959777 Otoferlin is a multi-C2 domain protein associated with genetic human deafness. It functions in hair-cell exocytosis. Several otoferlin C2 domains bind to Ca2+, phospholipids, & proteins. Review.
22906306 The study concludes that OTOF mutations are not the major cause of autosomal recessive nonsyndromic hearing loss in the Iranian population.
22575033 nine different mutations of OTOF were detected(seven of them were novel)in Japanese patients with auditory neuropathy
21935370 OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients
20504331 The mutatuion screening confirms that the OTOF gene contributes to auditory neuropathy and to termperature-sensitive auditory neuropathy.
20504331 Observational study of gene-disease association. (HuGE Navigator)
20230791 This study revealed a novel mutation p.Glu1804del in exon 44 of OTOF. The mutation was found to be homozygous in the three patients and segregated with the temperature-dependent deafness within the family.
20224275 The predominance of the p.E1700Q mutation and the evidence of its founder effect indicate a distinct OTOF mutation spectrum in Taiwanese patients with auditory neuropathy.
20224275 Observational study of gene-disease association. (HuGE Navigator)
20211493 Purpose of this paper is to analyse OTOF gene in a series of subjects affected by auditory neuropathy. Genetic analysis identified five new mutations.
19636622 mechano-electrical transduction and cochlear amplification are normal in patients with OTOF mutations. Potentials are consistent with decreased neurotransmitter release resulting in abnormal dendritic activation and impairment of auditory nerve firing.
19461658 Mutations in the OTOF gene are frequent causes of auditory neuropathy in Brazil and our results confirm that they are spread worldwide.
19250381 we demonstrate the existence of an alternative splice isoform of OTOF expressed in the human cochlea
19004828 Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.
18381613 Results confirm that mutation of the OTOF gene correlates with a phenotype of prelingual, profound nonsyndromic hearing impairment, and indicate that OTOF mutations are a major cause of inherited auditory neuropathy.
18381613 Observational study of gene-disease association. (HuGE Navigator)
18035737 OTOF does not seem to contribute to the pathogenesis of autosomal dominant auditory neuropathy in this family study.
17055430 Otoferlin is essential for a late step of synaptic vesicle exocytosis and may act as the major Ca(2+) sensor triggering membrane fusion at the auditory inner hair cell ribbon synapse.
16371502 Mutations in OTOF cause both profound hearing loss and a type of hearing loss where otoacoustic emissions are spared called auditory neuropathy.
14635104 Observational study of gene-disease association. (HuGE Navigator)
12525542 Mutations in the OTOF gene cause a non-syndromic recessive auditory neuropathy.
12469219 There are uncommon cytidine-homopolymer dimorphisms in 5'-UTR of the human otoferlin gene.
12127154 Substitutions in the conserved Ca-binding C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. 2 new mutations were found in exon 15 of the long splice form: 490 (Pro > Gln) and 515 (Ile > Thr.
12114484 Q829X, a novel mutation in OTOF, is the third most frequent mutation causing prelingual non-syndromic hearing loss reported so far in the Spanish population.

AA Sequence

MALLIHLKTVSELRGRGDRIAKVTFRGQSFYSRVLENCEDVADFDETFRWPVASSIDRNEMLEIQVFNYS      1 - 70
KVFSNKLIGTFRMVLQKVVEESHVEVTDTLIDDNNAIIKTSLCVEVRYQATDGTVGSWDDGDFLGDESLQ     71 - 140
EEEKDSQETDGLLPGSRPSSRPPGEKSFRRAGRSVFSAMKLGKNRSHKEEPQRPDEPAVLEMEDLDHLAI    141 - 210
RLGDGLDPDSVSLASVTALTTNVSNKRSKPDIKMEPSAGRPMDYQVSITVIEARQLVGLNMDPVVCVEVG    211 - 280
DDKKYTSMKESTNCPYYNEYFVFDFHVSPDVMFDKIIKISVIHSKNLLRSGTLVGSFKMDVGTVYSQPEH    281 - 350
QFHHKWAILSDPDDISSGLKGYVKCDVAVVGKGDNIKTPHKANETDEDDIEGNLLLPEGVPPERQWARFY    351 - 420
VKIYRAEGLPRMNTSLMANVKKAFIGENKDLVDPYVQVFFAGQKGKTSVQKSSYEPLWNEQVVFTDLFPP    421 - 490
LCKRMKVQIRDSDKVNDVAIGTHFIDLRKISNDGDKGFLPTLGPAWVNMYGSTRNYTLLDEHQDLNEGLG    491 - 560
EGVSFRARLLLGLAVEIVDTSNPELTSSTEVQVEQATPISESCAGKMEEFFLFGAFLEASMIDRRNGDKP    561 - 630
ITFEVTIGNYGNEVDGLSRPQRPRPRKEPGDEEEVDLIQNASDDEAGDAGDLASVSSTPPMRPQVTDRNY    631 - 700
FHLPYLERKPCIYIKSWWPDQRRRLYNANIMDHIADKLEEGLNDIQEMIKTEKSYPERRLRGVLEELSCG    701 - 770
CCRFLSLADKDQGHSSRTRLDRERLKSCMRELENMGQQARMLRAQVKRHTVRDKLRLCQNFLQKLRFLAD    771 - 840
EPQHSIPDIFIWMMSNNKRVAYARVPSKDLLFSIVEEETGKDCAKVKTLFLKLPGKRGFGSAGWTVQAKV    841 - 910
ELYLWLGLSKQRKEFLCGLPCGFQEVKAAQGLGLHAFPPVSLVYTKKQAFQLRAHMYQARSLFAADSSGL    911 - 980
SDPFARVFFINQSQCTEVLNETLCPTWDQMLVFDNLELYGEAHELRDDPPIIVIEIYDQDSMGKADFMGR    981 - 1050
TFAKPLVKMADEAYCPPRFPPQLEYYQIYRGNATAGDLLAAFELLQIGPAGKADLPPINGPVDVDRGPIM   1051 - 1120
PVPMGIRPVLSKYRVEVLFWGLRDLKRVNLAQVDRPRVDIECAGKGVQSSLIHNYKKNPNFNTLVKWFEV   1121 - 1190
DLPENELLHPPLNIRVVDCRAFGRYTLVGSHAVSSLRRFIYRPPDRSAPSWNTTVRLLRRCRVLCNGGSS   1191 - 1260
SHSTGEVVVTMEPEVPIKKLETMVKLDATSEAVVKVDVAEEEKEKKKKKKGTAEEPEEEEPDESMLDWWS   1261 - 1330
KYFASIDTMKEQLRQQEPSGIDLEEKEEVDNTEGLKGSMKGKEKARAAKEEKKKKTQSSGSGQGSEAPEK   1331 - 1400
KKPKIDELKVYPKELESEFDNFEDWLHTFNLLRGKTGDDEDGSTEEERIVGRFKGSLCVYKVPLPEDVSR   1401 - 1470
EAGYDSTYGMFQGIPSNDPINVLVRVYVVRATDLHPADINGKADPYIAIRLGKTDIRDKENYISKQLNPV   1471 - 1540
FGKSFDIEASFPMESMLTVAVYDWDLVGTDDLIGETKIDLENRFYSKHRATCGIAQTYSTHGYNIWRDPM   1541 - 1610
KPSQILTRLCKDGKVDGPHFGPPGRVKVANRVFTGPSEIEDENGQRKPTDEHVALLALRHWEDIPRAGCR   1611 - 1680
LVPEHVETRPLLNPDKPGIEQGRLELWVDMFPMDMPAPGTPLDISPRKPKKYELRVIIWNTDEVVLEDDD   1681 - 1750
FFTGEKSSDIFVRGWLKGQQEDKQDTDVHYHSLTGEGNFNWRYLFPFDYLAAEEKIVISKKESMFSWDET   1751 - 1820
EYKIPARLTLQIWDADHFSADDFLGAIELDLNRFPRGAKTAKQCTMEMATGEVDVPLVSIFKQKRVKGWW   1821 - 1890
PLLARNENDEFELTGKVEAELHLLTAEEAEKNPVGLARNEPDPLEKPNRPDTSFIWFLNPLKSARYFLWH   1891 - 1960
TYRWLLLKLLLLLLLLLLLALFLYSVPGYLVKKILGA                                    1961 - 1997
//

Text Mined References (42)

PMID Year Title
27082237 2016 Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
24999532 2014 Characterization of the lipid binding properties of Otoferlin reveals specific interactions between PI(4,5)P2 and the C2C and C2F domains.
24814232 2014 Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.
24746455 2014 Evidence for genotype-phenotype correlation for OTOF mutations.
24135434 2013 A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder.
24053799 2013 OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
24001616 2013 Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder.
23859474 2013 The C2 domains of otoferlin, dysferlin, and myoferlin alter the packing of lipid bilayers.
23319000 2014 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
22959777 2012 Otoferlin: a multi-C2 domain protein essential for hearing.
22906306 2012 Screening of OTOF mutations in Iran: a novel mutation and review.
22699663 2012 Genome-wide association study of periodontal pathogen colonization.
22575033 2012 A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
21935370 2011 Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
20504331 2010 Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.
20230791 2010 Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
20224275 2010 Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.
20211493 2010 Five new OTOF gene mutations and auditory neuropathy.
19636622 2009 Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene.
19461658 2009 Novel OTOF mutations in Brazilian patients with auditory neuropathy.
19250381 2009 Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
19004828 2009 Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3.
18381613 2008 A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
18035737 2007 [Sequence analysis of OTOF gene in a Chinese pedigree with autosomal dominant auditory neuropathy].
17055430 2006 Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16371502 2006 OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
16283880 2005 Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
16097006 2005 A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14635104 2003 Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
12525542 2003 Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
12469219 2003 Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene.
12127154 2002 Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
12114484 2002 Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
10903124 2000 OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
10878664 2000 Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
10843812 2000 Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23.
10192385 1999 A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
8789454 1996 A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.
8593615 1995 An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.